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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000440520.1:p.[Glu187_Ala191delinsGlyLysThrAlaLeuTrpProPro;Thr194_His209delinsLeuThrAsnSerSerAlaLeuMetGluThrAlaSerMetAlaAla;Arg212_Arg216delinsValThrGly]
CA645509266
ENST00000535915.5:c.560del